PAX4 — 197 ClinVar variants
All ClinVar germline PAX4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
11 Conflicting · 12 Benign · 16 Benign/Likely benign · 53 Likely benign · 105 Uncertain significance
Full PAX4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll PAX4 variants
Conflicting classifications of pathogenicity 11
- c.771+6C>T Single submitter type 2 diabetes mellitus
- p.Ala338Val Single submitter type 2 diabetes mellitus
- p.Arg105Cys Single submitter monogenic diabetes
- p.Arg129Trp Single submitter maturity-onset diabetes of the young
- p.Arg191Cys Single submitter
- p.Arg45Trp Single submitter type 2 diabetes mellitus
- p.Gly158= Single submitter maturity-onset diabetes of the young
- p.Gly71Cys Single submitter maturity-onset diabetes of the young type 9
- p.His329Pro Single submitter maturity-onset diabetes of the young
- p.Pro311Leu Single submitter monogenic diabetes
- p.Pro342Ser Single submitter
Benign 12
- c.436+76G>A Multiple submitters
- c.436+79C>T Multiple submitters
- c.716-42C>T Multiple submitters
- p.Arg200His Multiple submitters monogenic diabetes
- c.562+95_562+96insC Single submitter
- c.645+53G>A Single submitter
- c.715+173T>G Single submitter
- c.715+44ATCC[10] Single submitter
- c.715+44ATCC[12] Single submitter
- c.772-3del Single submitter
- c.*477C>T Single submitter
- c.*521C>T Single submitter
Benign/Likely benign 16
- c.13+175G>C Multiple submitters
- c.144+16C>T Multiple submitters maturity-onset diabetes of the young type 9
- c.145-136G>C Multiple submitters
- c.646-7C>T Multiple submitters
- c.772-10T>C Multiple submitters
- c.772-13dup Multiple submitters maturity-onset diabetes of the young type 9
- c.772-62C>T Multiple submitters
- c.*211A>G Multiple submitters type 2 diabetes mellitus
- p.Arg141Trp Multiple submitters monogenic diabetes
- p.Arg200Ser Multiple submitters monogenic diabetes
- p.Arg39Gln Multiple submitters diabetes mellitus, ketosis-prone
- p.Asp212= Multiple submitters diabetes mellitus, ketosis-prone
- p.Gln115= Multiple submitters maturity-onset diabetes of the young type 9
- p.Gln181= Multiple submitters
- p.Pro23= Multiple submitters maturity-onset diabetes of the young type 9
- p.Val152= Multiple submitters
Likely benign 53
- c.436+35G>A Multiple submitters
- c.437-246T>G Multiple submitters
- c.563-11G>A Multiple submitters maturity-onset diabetes of the young type 9
- c.716-51C>T Multiple submitters
- c.772-96G>A Multiple submitters
- c.-1C>A Multiple submitters
- c.*33A>C Multiple submitters
- p.Ala338= Multiple submitters
- p.Arg39Leu Multiple submitters maturity-onset diabetes of the young type 9
- p.Cys290Arg Multiple submitters
- p.His166= Multiple submitters maturity-onset diabetes of the young type 9
- p.Ile254= Multiple submitters type 2 diabetes mellitus
- c.360+150G>A Single submitter
- c.436+16G>A Single submitter
- c.436+9T>C Single submitter
- c.562+10T>C Single submitter
- c.563-12C>T Single submitter
- c.563-24C>T Single submitter
- c.563-5C>T Single submitter
- c.645+13T>A Single submitter
- c.646-6G>T Single submitter
- c.715+15C>G Single submitter
- c.715+181C>T Single submitter
- c.715+43T>C Single submitter
- c.715+44ATCC[13] Single submitter
- c.715+44ATCC[9] Single submitter
- c.771+113T>C Single submitter
- c.772-18C>T Single submitter
- c.913+14C>T Single submitter
- c.913+48G>A Single submitter
- c.914-8C>T Single submitter
- c.*143C>T Single submitter
- c.*190C>T Single submitter
- c.*287C>T Single submitter
- c.*402T>C Single submitter
- c.*492G>A Single submitter
- p.Ala298= Single submitter
- p.Arg227Gln Single submitter
- p.Arg32= Single submitter
- p.Gly136Arg Single submitter
- p.Gly14= Single submitter
- p.Gly305= Single submitter
- p.Gly59Arg Single submitter
- p.His171= Single submitter
- p.Leu24= Single submitter
- p.Pro138= Single submitter
- p.Pro82= Single submitter
- p.Ser277= Single submitter
- p.Thr114= Single submitter
- c.13+9C>T No assertion criteria PAX4-related disorder
- c.*165C>T No assertion criteria PAX4-related disorder
- c.*192C>T No assertion criteria PAX4-related disorder
- p.Gly5Arg No assertion criteria PAX4-related disorder
Uncertain significance 105
- c.772-1G>A Multiple submitters PAX4-related disorder
- p.Ala182Val Multiple submitters
- p.Ala267Val Multiple submitters
- p.Arg163Gln Multiple submitters maturity-onset diabetes of the young type 9
- p.Arg172Gln Multiple submitters maturity-onset diabetes of the young type 9
- p.Arg172Trp Multiple submitters maturity-onset diabetes of the young type 9
- p.Arg174Gln Multiple submitters
- p.Arg191His Multiple submitters diabetes mellitus, ketosis-prone
- p.Arg226Cys Multiple submitters maturity-onset diabetes of the young type 9
- p.Arg226His Multiple submitters diabetes mellitus, ketosis-prone
- p.Arg45Gln Multiple submitters diabetes mellitus, ketosis-prone
- p.Arg60His Multiple submitters diabetes mellitus, ketosis-prone
- p.Arg87Gln Multiple submitters diabetes mellitus, ketosis-prone
- p.Glu94Lys Multiple submitters
- p.Pro23Leu Multiple submitters
- p.Ser75Arg Multiple submitters maturity-onset diabetes of the young type 9
- p.Thr213Met Multiple submitters maturity-onset diabetes of the young type 9
- p.Thr26Ser Multiple submitters
- p.Trp341Ter Multiple submitters
- p.Val152Ile Multiple submitters type 2 diabetes mellitus
- c.14-2A>G Single submitter PAX4-related disorder
- c.144+2_144+8del Single submitter
- c.771+5T>G Single submitter
- c.772-3T>A Single submitter
- c.914-22CT[2] Single submitter
- c.-101_-100+2del Single submitter maturity-onset diabetes of the young type 9
- c.-99-144G>C Single submitter
- c.*133G>A Single submitter
- c.*196C>T Single submitter
- c.*492_*497del Single submitter
- c.*494AC[13] Single submitter
- p.Ala151Gly Single submitter
- p.Ala151Pro Single submitter
- p.Ala338Ser Single submitter
- p.Arg126Ter Single submitter
- p.Arg174Trp Single submitter
- p.Arg200Cys Single submitter
- p.Arg20Gln Single submitter
- p.Arg20Gly Single submitter
- p.Arg20Trp Single submitter
- p.Arg226Leu Single submitter
- p.Arg248Gly Single submitter
- p.Arg27Gln Single submitter
- p.Arg27Trp Single submitter
- p.Arg32Gly Single submitter
- p.Arg32Trp Single submitter
- p.Arg39Gly Single submitter PAX4-related disorder
- p.Arg60Gly Single submitter
- p.Arg63His Single submitter
- p.Arg78Gln Single submitter
- p.Arg78Trp Single submitter
- p.Asn18Thr Single submitter PAX4-related disorder
- p.Asp134Glu Single submitter
- p.Cys328Arg Single submitter
- p.Gln190fs Single submitter
- p.Gln236Glu Single submitter maturity-onset diabetes of the young type 9
- p.Gln236Ter Single submitter
- p.Gln242Arg Single submitter
- p.Gln242fs Single submitter monogenic diabetes
- p.Gln257= Single submitter
- p.Gln337fs Single submitter
- p.Gly111Val Single submitter
- p.Gly164Asp Single submitter
- p.Gly164Val Single submitter
- p.Gly170Ser Single submitter
- p.Gly192_Asp196del Single submitter type 2 diabetes mellitus
- p.Gly261fs Single submitter type 2 diabetes mellitus
- p.Gly305Asp Single submitter
- p.Gly71Ser Single submitter
- p.His156Arg Single submitter
- p.His171Tyr Single submitter
- p.Ile254Thr Single submitter
- p.Ile30Thr Single submitter
- p.Ile43Thr Single submitter monogenic diabetes
- p.Leu231= Single submitter
- p.Leu307Phe Single submitter
- p.Leu347Pro Single submitter
- p.Leu47Val Single submitter
- p.Pro138Leu Single submitter
- p.Pro150Leu Single submitter
- p.Pro273Gln Single submitter
- p.Pro296Ser Single submitter
- p.Pro40Thr Single submitter
- p.Pro83Arg Single submitter
- p.Ser144Ala Single submitter
- p.Ser157Gly Single submitter
- p.Ser259Tyr Single submitter
- p.Ser313Thr Single submitter
- p.Ser326Ala Single submitter
- p.Thr114Pro Single submitter
- p.Thr114Ser Single submitter
- p.Thr165Ser Single submitter
- p.Thr169= Single submitter
- p.Thr64Ile Single submitter
- p.Thr81Lys Single submitter
- p.Tyr279His Single submitter
- p.Tyr61Cys Single submitter
- p.Tyr61His Single submitter
- p.Val127Asp Single submitter maturity-onset diabetes of the young type 9
- p.Val127Ile Single submitter
- p.Val198Leu Single submitter
- p.Val35Asp Single submitter
- p.Val84Leu Single submitter
- p.Ser180Asn No assertion criteria maturity-onset diabetes of the young type 9
- p.Tyr61Ser No assertion criteria PAX4-related disorder